ClinVar Miner

List of variants in gene MYO6

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 726
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HGVS dbSNP gnomAD frequency
NM_004999.4(MYO6):c.817-21G>A rs7760587 0.99163
NM_004999.4(MYO6):c.1078+237T>G rs6453843 0.84836
NM_004999.4(MYO6):c.2947-255G>A rs2295938 0.84836
NM_004999.4(MYO6):c.1771-122G>T rs6453845 0.73268
NM_004999.4(MYO6):c.1224-80T>G rs3798439 0.73205
NM_004999.4(MYO6):c.*4114T>A rs7766661 0.72931
NM_004999.4(MYO6):c.261+73G>A rs1280052 0.60764
NM_004999.4(MYO6):c.*3835C>T rs7742137 0.51984
NM_004999.4(MYO6):c.3108-151A>G rs3798427 0.39791
NM_004999.4(MYO6):c.1944+195A>T rs9343325 0.39777
NM_004999.4(MYO6):c.652-92_652-91insT rs370811316 0.39645
NM_004999.4(MYO6):c.*2027T>C rs6914716 0.39546
NM_004999.4(MYO6):c.1078+132A>C rs9359141 0.39285
NM_004999.4(MYO6):c.187+151G>A rs2273859 0.37078
NM_004999.4(MYO6):c.*3940T>C rs11964034 0.33693
NM_004999.4(MYO6):c.*350T>C rs699186 0.33478
NM_004999.4(MYO6):c.1674+299C>T rs1322551 0.33360
NM_004999.4(MYO6):c.1078+184del rs11343853 0.33341
NM_004999.4(MYO6):c.3280+266A>G rs9447579 0.33249
NM_004999.4(MYO6):c.2077+96T>A rs9443195 0.33248
NM_004999.4(MYO6):c.2077+287A>G rs1407510 0.33245
NM_004999.4(MYO6):c.2659-192C>T rs17192223 0.22729
NM_004999.4(MYO6):c.2508-194C>G rs17800625 0.22710
NM_004999.4(MYO6):c.3412+238T>C rs62414824 0.22682
NM_004999.4(MYO6):c.2658+17C>T rs2295936 0.22603
NM_004999.4(MYO6):c.1674+228A>G rs11758543 0.22600
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
NM_004999.4(MYO6):c.898-239A>G rs62414787 0.22464
NM_004999.4(MYO6):c.*3447A>C rs1341567 0.19296
NM_004999.4(MYO6):c.2417-87C>A rs13211391 0.15431
NM_004999.4(MYO6):c.652-201G>A rs12203461 0.13270
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_004999.4(MYO6):c.554-65A>G rs12216518 0.13237
NM_004999.4(MYO6):c.817-218T>C rs10943295 0.13225
NM_004999.4(MYO6):c.*459A>G rs1045758 0.13207
NM_004999.4(MYO6):c.1078+110A>G rs9350601 0.13207
NM_004999.4(MYO6):c.1382-223A>G rs12213795 0.10406
NM_004999.4(MYO6):c.-47-247A>G rs9360942 0.10397
NM_004999.4(MYO6):c.1473+150C>T rs3818309 0.09081
NM_004999.4(MYO6):c.-47-182A>G rs6941627 0.06643
NM_004999.4(MYO6):c.1945-121T>C rs79443273 0.05819
NM_004999.4(MYO6):c.2287-292G>A rs2295935 0.04847
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04242
NM_004999.4(MYO6):c.*1703C>T rs9360957 0.03977
NM_004999.4(MYO6):c.-47-166G>A rs56338010 0.03912
NM_004999.4(MYO6):c.-48+42G>T rs117153951 0.03044
NM_004999.4(MYO6):c.3177-236A>G rs79951514 0.02285
NM_004999.4(MYO6):c.2416+269C>A rs77915507 0.02211
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=) rs9443199 0.02151
NM_004999.4(MYO6):c.2867+268C>T rs10081009 0.02150
NM_004999.4(MYO6):c.2867+143G>A rs148855110 0.01988
NM_004999.4(MYO6):c.553+185A>G rs77818820 0.01909
NM_004999.4(MYO6):c.2658+20A>C rs2295937 0.01861
NM_004999.4(MYO6):c.-49C>G rs149130280 0.01849
NM_004999.4(MYO6):c.3137+168A>C rs115716828 0.01770
NM_004999.4(MYO6):c.2508-204A>C rs115226441 0.01762
NM_004999.4(MYO6):c.2508-205A>G rs78810476 0.01761
NM_004999.4(MYO6):c.1983+193T>C rs11964991 0.01760
NM_004999.4(MYO6):c.2416+264C>T rs78418193 0.01759
NM_004999.4(MYO6):c.1224-118A>G rs7758439 0.01756
NM_004999.4(MYO6):c.*1962A>G rs80199115 0.01750
NM_004999.4(MYO6):c.498-239C>T rs139570949 0.01738
NM_004999.4(MYO6):c.261+31G>A rs115711509 0.01735
NM_004999.4(MYO6):c.187+67T>C rs114033446 0.01715
NM_004999.4(MYO6):c.*3546A>G rs73751758 0.01688
NM_004999.4(MYO6):c.1547-314C>T rs114602332 0.01634
NM_004999.4(MYO6):c.2658+133A>G rs111493322 0.01485
NM_004999.4(MYO6):c.2867+245A>G rs113678101 0.01392
NM_004999.4(MYO6):c.*1469G>T rs74367845 0.01285
NM_004999.4(MYO6):c.391+158A>G rs74419297 0.01279
NM_004999.4(MYO6):c.*2547G>A rs148652044 0.01269
NM_004999.4(MYO6):c.1381+73T>C rs41269321 0.01257
NM_004999.4(MYO6):c.1381+197A>G rs3798438 0.01251
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01200
NM_004999.4(MYO6):c.1675-261G>A rs58184532 0.01130
NM_004999.4(MYO6):c.1984-114T>C rs72654789 0.01118
NM_004999.4(MYO6):c.1473+139A>T rs2273858 0.01117
NM_004999.4(MYO6):c.2078-225A>G rs72654790 0.01117
NM_004999.4(MYO6):c.2417-193C>T rs117325088 0.01117
NM_004999.4(MYO6):c.2508-272G>A rs72654793 0.01115
NM_004999.4(MYO6):c.*3632T>G rs9443200 0.01093
NM_004999.4(MYO6):c.2078-313G>A rs139222118 0.01056
NM_004999.4(MYO6):c.554-79A>C rs114592293 0.00976
NM_004999.4(MYO6):c.-47-157C>T rs116700689 0.00928
NM_004999.4(MYO6):c.1675-268C>T rs575593385 0.00907
NM_004999.4(MYO6):c.-47-175G>A rs1280046 0.00842
NM_004999.4(MYO6):c.*4464C>T rs79815348 0.00798
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_004999.4(MYO6):c.*3509G>A rs78129547 0.00783
NM_004999.4(MYO6):c.*2910T>A rs140495245 0.00749
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_004999.4(MYO6):c.-225G>C rs886061759 0.00715
NM_004999.4(MYO6):c.2658+84G>A rs116151844 0.00690
NM_004999.4(MYO6):c.2658+258C>T rs115015775 0.00686
NM_004999.4(MYO6):c.2077+169T>C rs113821839 0.00635
NM_004999.4(MYO6):c.1382-48A>G rs45463793 0.00604
NM_004999.4(MYO6):c.*3288T>C rs118121148 0.00533
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
NM_004999.4(MYO6):c.816+257A>G rs189737317 0.00498
NM_004999.4(MYO6):c.1381+167_1381+171del rs560466966 0.00497
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_004999.4(MYO6):c.1473+67T>C rs113300962 0.00448
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_004999.4(MYO6):c.261+129G>C rs113576831 0.00445
NM_004999.4(MYO6):c.262-21G>A rs79662925 0.00443
NM_004999.4(MYO6):c.3177-294A>G rs113462945 0.00438
NM_004999.4(MYO6):c.*1006A>G rs113791186 0.00430
NM_004999.4(MYO6):c.2659-47A>G rs113353486 0.00424
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_004999.4(MYO6):c.*2396A>G rs147620639 0.00423
NM_004999.4(MYO6):c.3439+282A>G rs76147147 0.00384
NM_004999.4(MYO6):c.1675-187T>G rs191349476 0.00381
NM_004999.4(MYO6):c.2867+37A>G rs59244460 0.00380
NM_004999.4(MYO6):c.*1324A>G rs191987417 0.00357
NM_004999.4(MYO6):c.*2716A>G rs188568413 0.00357
NM_004999.4(MYO6):c.*1607C>T rs77813459 0.00356
NM_004999.4(MYO6):c.897+238C>T rs3756903 0.00355
NM_004999.4(MYO6):c.652-216G>T rs111480295 0.00351
NM_004999.4(MYO6):c.*4481T>C rs142744723 0.00350
NM_004999.4(MYO6):c.1674+266G>A rs6453844 0.00329
NM_004999.4(MYO6):c.2417-2064T>C rs530086641 0.00328
NM_004999.4(MYO6):c.2416+235A>G rs529749344 0.00326
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_004999.4(MYO6):c.1224-316A>G rs111545804 0.00317
NM_004999.4(MYO6):c.554-261G>T rs111376920 0.00311
NM_004999.4(MYO6):c.554-191C>T rs111567888 0.00310
NM_004999.4(MYO6):c.652-223G>A rs112510570 0.00310
NM_004999.4(MYO6):c.*2535_*2538dup rs149527616 0.00304
NM_004999.4(MYO6):c.*1287T>A rs570884031 0.00292
NM_004999.4(MYO6):c.*1627A>G rs147347025 0.00273
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_004999.4(MYO6):c.*3914T>C rs541767003 0.00228
NM_004999.4(MYO6):c.2635G>A (p.Asp879Asn) rs60970824 0.00175
NM_004999.4(MYO6):c.1771-48T>C rs114589661 0.00174
NM_004999.4(MYO6):c.*301G>A rs116215208 0.00173
NM_004999.4(MYO6):c.*4095G>A rs185154265 0.00151
NM_004999.4(MYO6):c.*2759C>A rs142353235 0.00140
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_004999.4(MYO6):c.*303A>G rs146133231 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_004999.4(MYO6):c.3137+45T>A rs199995052 0.00111
NM_004999.4(MYO6):c.*3879G>A rs189646143 0.00105
NM_004999.4(MYO6):c.2078-19T>C rs188730005 0.00105
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_004999.4(MYO6):c.2659-26G>A rs370128958 0.00098
NM_004999.4(MYO6):c.1944+31A>G rs199620053 0.00096
NM_004999.4(MYO6):c.92T>C (p.Ile31Thr) rs148735953 0.00093
NM_004999.4(MYO6):c.*1785A>C rs139803503 0.00090
NM_004999.4(MYO6):c.*3846G>A rs538108588 0.00088
NM_004999.4(MYO6):c.2175A>G (p.Lys725=) rs116571790 0.00088
NM_004999.4(MYO6):c.*4287C>T rs73751759 0.00085
NM_004999.4(MYO6):c.3107+29G>A rs201488990 0.00081
NM_004999.4(MYO6):c.2416+51T>C rs371098321 0.00074
NM_004999.4(MYO6):c.*1522C>T rs149257535 0.00071
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_004999.4(MYO6):c.*3829T>C rs62414825 0.00068
NM_004999.4(MYO6):c.*4032G>A rs373146837 0.00068
NM_004999.4(MYO6):c.875T>C (p.Leu292Ser) rs144038082 0.00056
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_004999.4(MYO6):c.*1232C>T rs182487428 0.00051
NM_004999.4(MYO6):c.*511G>A rs753019749 0.00045
NM_004999.4(MYO6):c.*1847A>G rs886061770 0.00043
NM_004999.4(MYO6):c.1182C>A (p.Val394=) rs145568584 0.00040
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_004999.4(MYO6):c.*3230T>C rs562815854 0.00038
NM_004999.4(MYO6):c.18C>T (p.Pro6=) rs138024490 0.00035
NM_004999.4(MYO6):c.*263T>C rs552963186 0.00032
NM_004999.4(MYO6):c.*3874G>A rs187631847 0.00032
NM_004999.4(MYO6):c.52A>G (p.Met18Val) rs142516093 0.00030
NM_004999.4(MYO6):c.*1925A>G rs912042329 0.00029
NM_004999.4(MYO6):c.*4288G>A rs570588843 0.00029
NM_004999.4(MYO6):c.*4446A>G rs148227849 0.00029
NM_004999.4(MYO6):c.*1738A>G rs193019967 0.00028
NM_004999.4(MYO6):c.898-51T>A rs189536718 0.00028
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_004999.4(MYO6):c.*1884A>C rs562636905 0.00025
NM_004999.4(MYO6):c.1770+21G>T rs368430877 0.00025
NM_004999.4(MYO6):c.*4428A>G rs574549669 0.00024
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_004999.4(MYO6):c.*2996A>G rs536099586 0.00021
NM_004999.4(MYO6):c.262-9C>T rs187811833 0.00021
NM_004999.4(MYO6):c.*3660C>T rs774736565 0.00020
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_004999.4(MYO6):c.*1889A>G rs189155544 0.00018
NM_004999.4(MYO6):c.*3834G>A rs886061779 0.00018
NM_004999.4(MYO6):c.*2346A>G rs745897280 0.00017
NM_004999.4(MYO6):c.188-3T>C rs373199401 0.00017
NM_004999.4(MYO6):c.262-12T>G rs368072756 0.00017
NM_004999.4(MYO6):c.1224-15A>G rs376927352 0.00016
NM_004999.4(MYO6):c.1674+40G>A rs202233043 0.00016
NM_004999.4(MYO6):c.*4030G>A rs746829763 0.00014
NM_004999.4(MYO6):c.2472T>G (p.Ile824Met) rs368132510 0.00014
NM_004999.4(MYO6):c.2665A>G (p.Met889Val) rs727505098 0.00014
NM_004999.4(MYO6):c.26C>T (p.Ala9Val) rs199508553 0.00014
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr) rs573770611 0.00013
NM_004999.4(MYO6):c.553+13T>A rs369806112 0.00013
NM_004999.4(MYO6):c.2616G>T (p.Lys872Asn) rs139542573 0.00012
NM_004999.4(MYO6):c.441C>T (p.Ile147=) rs565770950 0.00012
NM_004999.4(MYO6):c.*3890G>A rs574818180 0.00011
NM_004999.4(MYO6):c.3393A>G (p.Pro1131=) rs768505655 0.00011
NM_004999.4(MYO6):c.600C>T (p.Asn200=) rs145665265 0.00011
NM_004999.4(MYO6):c.*4506T>C rs766637637 0.00009
NM_004999.4(MYO6):c.*311T>C rs886061765 0.00008
NM_004999.4(MYO6):c.1767A>G (p.Glu589=) rs547890149 0.00008
NM_004999.4(MYO6):c.*1335G>A rs942079896 0.00007
NM_004999.4(MYO6):c.2357A>G (p.His786Arg) rs780037124 0.00007
NM_004999.4(MYO6):c.3439C>T (p.Pro1147Ser) rs748774373 0.00007
NM_004999.4(MYO6):c.3791A>G (p.Asn1264Ser) rs367978681 0.00007
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.1589A>T (p.Asp530Val) rs373929865 0.00006
NM_004999.4(MYO6):c.1748C>T (p.Ala583Val) rs766684928 0.00006
NM_004999.4(MYO6):c.2342T>A (p.Val781Asp) rs750880162 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_004999.4(MYO6):c.2818C>T (p.Arg940Cys) rs200205409 0.00006
NM_004999.4(MYO6):c.3138-13G>A rs745986505 0.00006
NM_004999.4(MYO6):c.3269A>G (p.Asn1090Ser) rs368097606 0.00006
NM_004999.4(MYO6):c.3367A>G (p.Asn1123Asp) rs189411232 0.00006
NM_004999.4(MYO6):c.3537C>T (p.Ala1179=) rs371212410 0.00006
NM_004999.4(MYO6):c.3514C>T (p.Arg1172Cys) rs752568854 0.00005
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_004999.4(MYO6):c.966G>A (p.Thr322=) rs375754710 0.00005
NM_004999.4(MYO6):c.*1181G>A rs769731324 0.00004
NM_004999.4(MYO6):c.*1284T>G rs546877472 0.00004
NM_004999.4(MYO6):c.*2146A>C rs1005102784 0.00004
NM_004999.4(MYO6):c.*305T>C rs1050868572 0.00004
NM_004999.4(MYO6):c.*362A>G rs886061766 0.00004
NM_004999.4(MYO6):c.*692C>A rs1054285205 0.00004
NM_004999.4(MYO6):c.*860G>T rs570922846 0.00004
NM_004999.4(MYO6):c.1029C>T (p.Gly343=) rs752948085 0.00004
NM_004999.4(MYO6):c.1658A>T (p.Asp553Val) rs376562219 0.00004
NM_004999.4(MYO6):c.1926C>T (p.Ser642=) rs184784079 0.00004
NM_004999.4(MYO6):c.2946+10T>C rs371745279 0.00004
NM_004999.4(MYO6):c.2947-39T>G rs527787322 0.00004
NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln) rs374966499 0.00004
NM_004999.4(MYO6):c.3107+11C>T rs201968938 0.00004
NM_004999.4(MYO6):c.3439+1G>A rs146219669 0.00004
NM_004999.4(MYO6):c.3755T>A (p.Ile1252Asn) rs773042864 0.00004
NM_004999.4(MYO6):c.3814C>T (p.Arg1272Trp) rs199699596 0.00004
NM_004999.4(MYO6):c.45A>G (p.Gly15=) rs758200740 0.00004
NM_004999.4(MYO6):c.596G>A (p.Arg199His) rs140235734 0.00004
NM_004999.4(MYO6):c.91A>G (p.Ile31Val) rs775035511 0.00004
NM_004999.4(MYO6):c.*3029A>G rs886061775 0.00003
NM_004999.4(MYO6):c.*3973A>G rs886061780 0.00003
NM_004999.4(MYO6):c.140A>G (p.Gln47Arg) rs576924704 0.00003
NM_004999.4(MYO6):c.1607C>T (p.Pro536Leu) rs980820643 0.00003
NM_004999.4(MYO6):c.1631C>T (p.Thr544Ile) rs371944427 0.00003
NM_004999.4(MYO6):c.163A>G (p.Ser55Gly) rs774802052 0.00003
NM_004999.4(MYO6):c.1939T>G (p.Phe647Val) rs752585373 0.00003
NM_004999.4(MYO6):c.2020A>G (p.Lys674Glu) rs374247860 0.00003
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) rs372399868 0.00003
NM_004999.4(MYO6):c.2552A>C (p.Asp851Ala) rs142423106 0.00003
NM_004999.4(MYO6):c.2716T>C (p.Ser906Pro) rs727505048 0.00003
NM_004999.4(MYO6):c.3171G>C (p.Leu1057Phe) rs762612311 0.00003
NM_004999.4(MYO6):c.3236A>G (p.Lys1079Arg) rs753378509 0.00003
NM_004999.4(MYO6):c.3386G>A (p.Arg1129His) rs779885818 0.00003
NM_004999.4(MYO6):c.3637C>T (p.Pro1213Ser) rs749985011 0.00003
NM_004999.4(MYO6):c.3679T>C (p.Cys1227Arg) rs370061746 0.00003
NM_004999.4(MYO6):c.406C>A (p.Arg136=) rs758630450 0.00003
NM_004999.4(MYO6):c.*2688A>G rs982469853 0.00002
NM_004999.4(MYO6):c.1224-31G>T rs768918981 0.00002
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) rs768643110 0.00002
NM_004999.4(MYO6):c.1945-16T>C rs373824667 0.00002
NM_004999.4(MYO6):c.217C>G (p.Leu73Val) rs759372006 0.00002
NM_004999.4(MYO6):c.2309T>C (p.Met770Thr) rs202216621 0.00002
NM_004999.4(MYO6):c.2515G>A (p.Gly839Ser) rs1352587099 0.00002
NM_004999.4(MYO6):c.270C>T (p.Val90=) rs376613843 0.00002
NM_004999.4(MYO6):c.27G>A (p.Ala9=) rs767670766 0.00002
NM_004999.4(MYO6):c.2926G>T (p.Asp976Tyr) rs201168408 0.00002
NM_004999.4(MYO6):c.297A>G (p.Pro99=) rs375790985 0.00002
NM_004999.4(MYO6):c.3019C>T (p.Arg1007Cys) rs143152727 0.00002
NM_004999.4(MYO6):c.3035T>C (p.Leu1012Pro) rs757332098 0.00002
NM_004999.4(MYO6):c.3098C>T (p.Ala1033Val) rs147066544 0.00002
NM_004999.4(MYO6):c.3505C>T (p.Arg1169Cys) rs144006872 0.00002
NM_004999.4(MYO6):c.3659-10A>G rs765929647 0.00002
NM_004999.4(MYO6):c.3719G>A (p.Arg1240His) rs772457315 0.00002
NM_004999.4(MYO6):c.61A>T (p.Ile21Phe) rs546375259 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_004999.4(MYO6):c.*1030T>C rs886061767 0.00001
NM_004999.4(MYO6):c.*2410T>C rs1475834409 0.00001
NM_004999.4(MYO6):c.*2572A>C rs1338857560 0.00001
NM_004999.4(MYO6):c.*3032C>T rs1028807508 0.00001
NM_004999.4(MYO6):c.*3064A>G rs1455253489 0.00001
NM_004999.4(MYO6):c.*3364A>G rs1457788079 0.00001
NM_004999.4(MYO6):c.*34T>G rs1562323292 0.00001
NM_004999.4(MYO6):c.*3524A>G rs886061778 0.00001
NM_004999.4(MYO6):c.*3549C>T rs1414053280 0.00001
NM_004999.4(MYO6):c.*3926T>C rs1296097210 0.00001
NM_004999.4(MYO6):c.*4196T>C rs1168354848 0.00001
NM_004999.4(MYO6):c.1049T>C (p.Ile350Thr) rs377470568 0.00001
NM_004999.4(MYO6):c.1079-5A>G rs774020683 0.00001
NM_004999.4(MYO6):c.1159C>T (p.Arg387Ter) rs766700803 0.00001
NM_004999.4(MYO6):c.1160G>A (p.Arg387Gln) rs752489259 0.00001
NM_004999.4(MYO6):c.1212A>G (p.Gly404=) rs397517044 0.00001
NM_004999.4(MYO6):c.1234A>G (p.Lys412Glu) rs1379950750 0.00001
NM_004999.4(MYO6):c.1667G>A (p.Arg556Gln) rs760293058 0.00001
NM_004999.4(MYO6):c.1674+5G>A rs761306925 0.00001
NM_004999.4(MYO6):c.178G>C (p.Glu60Gln) rs757420692 0.00001
NM_004999.4(MYO6):c.1853G>A (p.Arg618Gln) rs777201018 0.00001
NM_004999.4(MYO6):c.1960C>A (p.Leu654Ile) rs890026684 0.00001
NM_004999.4(MYO6):c.2000G>A (p.Arg667His) rs781769307 0.00001
NM_004999.4(MYO6):c.2014A>G (p.Asn672Asp) rs1436084356 0.00001
NM_004999.4(MYO6):c.2151G>T (p.Met717Ile) rs1409808281 0.00001
NM_004999.4(MYO6):c.2162A>G (p.Tyr721Cys) rs1777881219 0.00001
NM_004999.4(MYO6):c.2286+8T>C rs780274416 0.00001
NM_004999.4(MYO6):c.2337G>A (p.Glu779=) rs762207024 0.00001
NM_004999.4(MYO6):c.2359T>C (p.Trp787Arg) rs1344197751 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_004999.4(MYO6):c.2507G>A (p.Arg836His) rs876657909 0.00001
NM_004999.4(MYO6):c.2508C>T (p.Arg836=) rs1194065369 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_004999.4(MYO6):c.2658+8A>G rs397517048 0.00001
NM_004999.4(MYO6):c.2659T>A (p.Ser887Thr) rs1409939234 0.00001
NM_004999.4(MYO6):c.2837G>A (p.Arg946His) rs781754117 0.00001
NM_004999.4(MYO6):c.287C>T (p.Ala96Val) rs749522327 0.00001
NM_004999.4(MYO6):c.2974C>T (p.Gln992Ter) rs1778981404 0.00001
NM_004999.4(MYO6):c.3057T>G (p.Ser1019Arg) rs372968228 0.00001
NM_004999.4(MYO6):c.3137+5G>A rs397517050 0.00001
NM_004999.4(MYO6):c.3177-5T>C rs1335496279 0.00001
NM_004999.4(MYO6):c.3338A>T (p.His1113Leu) rs755485724 0.00001
NM_004999.4(MYO6):c.3384A>G (p.Gln1128=) rs397517051 0.00001
NM_004999.4(MYO6):c.3496C>T (p.Arg1166Ter) rs121912558 0.00001
NM_004999.4(MYO6):c.3515G>A (p.Arg1172His) rs1554223761 0.00001
NM_004999.4(MYO6):c.3538G>A (p.Asp1180Asn) rs779535270 0.00001
NM_004999.4(MYO6):c.3597A>G (p.Gly1199=) rs751775864 0.00001
NM_004999.4(MYO6):c.3704G>T (p.Gly1235Val) rs199728355 0.00001
NM_004999.4(MYO6):c.3823dup (p.Tyr1275fs) rs746038889 0.00001
NM_004999.4(MYO6):c.392C>T (p.Ala131Val) rs1259894372 0.00001
NM_004999.4(MYO6):c.438T>C (p.Ser146=) rs1773255262 0.00001
NM_004999.4(MYO6):c.465C>T (p.Ala155=) rs200963569 0.00001
NM_004999.4(MYO6):c.498-11A>G rs749261743 0.00001
NM_004999.4(MYO6):c.564C>T (p.Leu188=) rs750374337 0.00001
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559 0.00001
NM_004999.4(MYO6):c.679C>T (p.His227Tyr) rs930430931 0.00001
NM_004999.4(MYO6):c.685C>T (p.Leu229Phe) rs1301010120 0.00001
NM_004999.4(MYO6):c.755G>A (p.Cys252Tyr) rs777614964 0.00001
NM_004999.4(MYO6):c.887A>G (p.Lys296Arg) rs1402918571 0.00001
NM_004999.4(MYO6):c.908C>T (p.Ala303Val) rs776690609 0.00001
GRCh37/hg19 6q14.1(chr6:76545618-76545673)x1
NC_000006.11:g.(?_76527265)_(76542684_?)dup
NC_000006.11:g.(?_76540113)_(76542684_?)dup
NM_004999.4(MYO6):c.*1011T>A rs1781098790
NM_004999.4(MYO6):c.*1139del rs3834289
NM_004999.4(MYO6):c.*1441TAAAT[1] rs886061769
NM_004999.4(MYO6):c.*148T>C rs886061764
NM_004999.4(MYO6):c.*1528C>T rs188719640
NM_004999.4(MYO6):c.*186A>G rs571307356
NM_004999.4(MYO6):c.*2029del rs886061771
NM_004999.4(MYO6):c.*2276A>G rs1464248220
NM_004999.4(MYO6):c.*2497A>G rs886061772
NM_004999.4(MYO6):c.*2838T>G rs1781202815
NM_004999.4(MYO6):c.*2873T>C rs1781205454
NM_004999.4(MYO6):c.*2881_*2882del rs397812617
NM_004999.4(MYO6):c.*2882del rs397812617
NM_004999.4(MYO6):c.*2976C>T rs1781211562
NM_004999.4(MYO6):c.*3039A>G rs540365866
NM_004999.4(MYO6):c.*3296G>T rs7741414
NM_004999.4(MYO6):c.*3297G>C rs888964790
NM_004999.4(MYO6):c.*3301del rs199966180
NM_004999.4(MYO6):c.*3473del rs886061777
NM_004999.4(MYO6):c.*3475G>A rs771776668
NM_004999.4(MYO6):c.*3824A>C rs1781270510
NM_004999.4(MYO6):c.*401A>G rs200014336
NM_004999.4(MYO6):c.*4056G>A rs182280217
NM_004999.4(MYO6):c.*4113dup rs138193115
NM_004999.4(MYO6):c.*4283A>G rs7746476
NM_004999.4(MYO6):c.*4283A>T rs7746476
NM_004999.4(MYO6):c.*429T>C rs1781071721
NM_004999.4(MYO6):c.*4423AATT[1] rs10547766
NM_004999.4(MYO6):c.*4495AAAT[4] rs574841371
NM_004999.4(MYO6):c.*650G>C rs191856462
NM_004999.4(MYO6):c.*875C>T rs184099248
NM_004999.4(MYO6):c.-12CCT[1] rs727504951
NM_004999.4(MYO6):c.-185G>T rs566419666
NM_004999.4(MYO6):c.-19C>A rs746580223
NM_004999.4(MYO6):c.-47-179dup rs759910571
NM_004999.4(MYO6):c.-47-182_-47-179dup rs759910571
NM_004999.4(MYO6):c.-47-183_-47-179dup rs759910571
NM_004999.4(MYO6):c.-47-197C>A rs890890661
NM_004999.4(MYO6):c.-47-3C>G
NM_004999.4(MYO6):c.1015C>T (p.Arg339Trp) rs1443534092
NM_004999.4(MYO6):c.103A>T (p.Asn35Tyr)
NM_004999.4(MYO6):c.1073C>T (p.Thr358Ile)
NM_004999.4(MYO6):c.1078+12A>G
NM_004999.4(MYO6):c.1078+19dup rs144408691
NM_004999.4(MYO6):c.1078+6C>T
NM_004999.4(MYO6):c.1079G>A (p.Gly360Asp)
NM_004999.4(MYO6):c.1095G>A (p.Lys365=)
NM_004999.4(MYO6):c.1115T>C (p.Leu372Ser)
NM_004999.4(MYO6):c.1125del (p.Cys375fs)
NM_004999.4(MYO6):c.1128T>C (p.Ala376=) rs1583282758
NM_004999.4(MYO6):c.1139G>C (p.Gly380Ala)
NM_004999.4(MYO6):c.1139G>T (p.Gly380Val)
NM_004999.4(MYO6):c.1156C>T (p.Leu386Phe)
NM_004999.4(MYO6):c.1161A>G (p.Arg387=)
NM_004999.4(MYO6):c.117+11C>T
NM_004999.4(MYO6):c.1178G>T (p.Arg393Ile) rs1775638556
NM_004999.4(MYO6):c.118-261_118-259del rs144524315
NM_004999.4(MYO6):c.1193C>T (p.Thr398Ile)
NM_004999.4(MYO6):c.1199G>A (p.Gly400Glu) rs886061761
NM_004999.4(MYO6):c.1216G>A (p.Val406Ile) rs377562418
NM_004999.4(MYO6):c.1216G>C (p.Val406Leu)
NM_004999.4(MYO6):c.1223+16A>T rs974546034
NM_004999.4(MYO6):c.1238T>C (p.Val413Ala)
NM_004999.4(MYO6):c.1250A>G (p.Asn417Ser) rs1554210769
NM_004999.4(MYO6):c.1264G>A (p.Ala422Thr) rs1583287198
NM_004999.4(MYO6):c.1283A>G (p.Tyr428Cys)
NM_004999.4(MYO6):c.1291C>T (p.Leu431Phe)
NM_004999.4(MYO6):c.1295T>C (p.Phe432Ser) rs2149283139
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) rs121912557
NM_004999.4(MYO6):c.1376G>C (p.Gly459Ala)
NM_004999.4(MYO6):c.1383G>C (p.Glu461Asp) rs727504548
NM_004999.4(MYO6):c.1383_1385del (p.Glu461_Tyr462delinsAsp)
NM_004999.4(MYO6):c.1397A>T (p.Asn466Ile)
NM_004999.4(MYO6):c.1405G>A (p.Glu469Lys)
NM_004999.4(MYO6):c.1441CAA[1] (p.Gln482del)
NM_004999.4(MYO6):c.1442A>C (p.Gln481Pro)
NM_004999.4(MYO6):c.1447T>A (p.Phe483Ile)
NM_004999.4(MYO6):c.1452_1453insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTCTTCAACAATTTTTT (p.Asn485delinsPhePhePhePhePhePheXaaXaaXaaXaaGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluGlyGluSerSerThrIlePheTer)
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) rs1775958137
NM_004999.4(MYO6):c.1473+10A>G rs876657531
NM_004999.4(MYO6):c.1473+1G>A rs2149288272
NM_004999.4(MYO6):c.1473_1473+2delinsC rs878853225
NM_004999.4(MYO6):c.1474-12T>C
NM_004999.4(MYO6):c.1477C>A (p.Gln493Lys) rs759114945
NM_004999.4(MYO6):c.1477C>G (p.Gln493Glu)
NM_004999.4(MYO6):c.1516G>T (p.Val506Leu) rs1554211583
NM_004999.4(MYO6):c.1546+7_1546+8del rs3831003
NM_004999.4(MYO6):c.1547-252A>G rs3798437
NM_004999.4(MYO6):c.1578G>A (p.Leu526=)
NM_004999.4(MYO6):c.1627T>C (p.Phe543Leu)
NM_004999.4(MYO6):c.162C>G (p.Asp54Glu)
NM_004999.4(MYO6):c.166A>G (p.Lys56Glu) rs1344780366
NM_004999.4(MYO6):c.1675-18A>G
NM_004999.4(MYO6):c.1675-239_1675-238insGGTG rs377636351
NM_004999.4(MYO6):c.1675-239_1675-238insGGTGTGTG rs562112068
NM_004999.4(MYO6):c.1675-239_1675-238insGGTGTGTGTG rs773297070
NM_004999.4(MYO6):c.1675-250TG[15] rs10687890
NM_004999.4(MYO6):c.1675-250TG[17] rs10687890
NM_004999.4(MYO6):c.1675-250TG[18] rs10687890
NM_004999.4(MYO6):c.1675-250TG[19] rs10687890
NM_004999.4(MYO6):c.1675-250TG[20] rs10687890
NM_004999.4(MYO6):c.1675-250TG[21] rs10687890
NM_004999.4(MYO6):c.1692G>C (p.Lys564Asn) rs1776713738
NM_004999.4(MYO6):c.1695G>C (p.Leu565=) rs111033501
NM_004999.4(MYO6):c.1719C>A (p.Asp573Glu) rs776073744
NM_004999.4(MYO6):c.1733T>A (p.Ile578Asn)
NM_004999.4(MYO6):c.1747G>A (p.Ala583Thr)
NM_004999.4(MYO6):c.1749G>A (p.Ala583=)
NM_004999.4(MYO6):c.1749G>T (p.Ala583=)
NM_004999.4(MYO6):c.1756G>C (p.Val586Leu) rs1776720096
NM_004999.4(MYO6):c.1770+3G>A
NM_004999.4(MYO6):c.1772C>T (p.Thr591Ile)
NM_004999.4(MYO6):c.1785G>T (p.Glu595Asp)
NM_004999.4(MYO6):c.1808T>C (p.Met603Thr)
NM_004999.4(MYO6):c.1837A>G (p.Arg613Gly) rs781019390
NM_004999.4(MYO6):c.1852C>T (p.Arg618Trp)
NM_004999.4(MYO6):c.1858T>G (p.Leu620Val)
NM_004999.4(MYO6):c.1859T>A (p.Leu620Ter) rs2149312917
NM_004999.4(MYO6):c.1866A>G (p.Glu622=)
NM_004999.4(MYO6):c.1867T>G (p.Ser623Ala)
NM_004999.4(MYO6):c.188-19T>G
NM_004999.4(MYO6):c.188-1G>T
NM_004999.4(MYO6):c.1881CAA[1] (p.Asn628del) rs1233700794
NM_004999.4(MYO6):c.1885A>G (p.Lys629Glu)
NM_004999.4(MYO6):c.1921A>G (p.Ile641Val) rs1554213104
NM_004999.4(MYO6):c.1935C>A (p.Asn645Lys) rs2149313117
NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu) rs752585373
NM_004999.4(MYO6):c.1944+18T>G
NM_004999.4(MYO6):c.1944+27dup rs754309380
NM_004999.4(MYO6):c.1944+7G>A
NM_004999.4(MYO6):c.1944+7G>T rs1265157032
NM_004999.4(MYO6):c.1945-2A>G rs1554214085
NM_004999.4(MYO6):c.1945-3C>G rs1285253674
NM_004999.4(MYO6):c.1975C>T (p.Arg659Ter) rs1777073184
NM_004999.4(MYO6):c.1983+1G>A rs2149321922
NM_004999.4(MYO6):c.1984-5C>T
NM_004999.4(MYO6):c.1992C>T (p.Ser664=)
NM_004999.4(MYO6):c.2030G>T (p.Ser677Ile) rs771235729
NM_004999.4(MYO6):c.2060C>G (p.Ser687Cys) rs765145836
NM_004999.4(MYO6):c.2060C>T (p.Ser687Phe)
NM_004999.4(MYO6):c.2063A>T (p.Gln688Leu) rs1777294344
NM_004999.4(MYO6):c.2078-20G>T
NM_004999.4(MYO6):c.2078-2A>G rs1777874560
NM_004999.4(MYO6):c.2103G>A (p.Met701Ile) rs975737464
NM_004999.4(MYO6):c.2107G>C (p.Gly703Arg) rs753163582
NM_004999.4(MYO6):c.2110G>C (p.Gly704Arg)
NM_004999.4(MYO6):c.2111dup (p.Tyr705fs) rs397517045
NM_004999.4(MYO6):c.2117dup (p.Ser707fs)
NM_004999.4(MYO6):c.2135A>G (p.His712Arg)
NM_004999.4(MYO6):c.2149A>G (p.Met717Val) rs2149343586
NM_004999.4(MYO6):c.2159A>T (p.Lys720Met)
NM_004999.4(MYO6):c.2164A>G (p.Met722Val) rs2149343655
NM_004999.4(MYO6):c.2165T>C (p.Met722Thr)
NM_004999.4(MYO6):c.2170G>C (p.Asp724His) rs397517046
NM_004999.4(MYO6):c.2183G>A (p.Arg728Lys)
NM_004999.4(MYO6):c.2209-2_2212del
NM_004999.4(MYO6):c.2218A>G (p.Lys740Glu) rs2149343921
NM_004999.4(MYO6):c.221T>C (p.Leu74Pro)
NM_004999.4(MYO6):c.222C>G (p.Leu74=)
NM_004999.4(MYO6):c.222C>T (p.Leu74=) rs1395892527
NM_004999.4(MYO6):c.2240dup (p.Asn747fs)
NM_004999.4(MYO6):c.2253T>G (p.Phe751Leu)
NM_004999.4(MYO6):c.2266G>A (p.Val756Ile) rs864309590
NM_004999.4(MYO6):c.2267T>A (p.Val756Glu) rs1777894570
NM_004999.4(MYO6):c.2274T>G (p.Phe758Leu)
NM_004999.4(MYO6):c.2284A>G (p.Lys762Glu) rs886061762
NM_004999.4(MYO6):c.2287-255del rs36036090
NM_004999.4(MYO6):c.2287-2A>G rs2149347420
NM_004999.4(MYO6):c.2287-6_2287-5insTAG rs2149347409
NM_004999.4(MYO6):c.2287-9A>G
NM_004999.4(MYO6):c.2307C>G (p.Ile769Met)
NM_004999.4(MYO6):c.2366C>T (p.Thr789Ile)
NM_004999.4(MYO6):c.2374C>T (p.Arg792Cys)
NM_004999.4(MYO6):c.2375G>A (p.Arg792His) rs781458857
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter) rs2149347766
NM_004999.4(MYO6):c.2410A>G (p.Ile804Val)
NM_004999.4(MYO6):c.2416+1G>A
NM_004999.4(MYO6):c.2416+2T>C
NM_004999.4(MYO6):c.2417-1758T>G rs1562283089
NM_004999.4(MYO6):c.2417-1G>A
NM_004999.4(MYO6):c.2417-7C>T
NM_004999.4(MYO6):c.2430A>G (p.Ile810Met) rs1354902174
NM_004999.4(MYO6):c.2437C>T (p.Arg813Ter)
NM_004999.4(MYO6):c.2442_2445dup (p.Ala816Ter)
NM_004999.4(MYO6):c.2462A>G (p.Gln821Arg) rs1778410002
NM_004999.4(MYO6):c.2473C>T (p.Arg825Ter)
NM_004999.4(MYO6):c.2474G>A (p.Arg825Gln)
NM_004999.4(MYO6):c.2507+12A>G rs1214613190
NM_004999.4(MYO6):c.2507+19A>G
NM_004999.4(MYO6):c.2508-19T>C
NM_004999.4(MYO6):c.2539A>C (p.Lys847Gln)
NM_004999.4(MYO6):c.2544_2545del (p.Arg849fs) rs2149358928
NM_004999.4(MYO6):c.2544dup (p.Arg849fs)
NM_004999.4(MYO6):c.2545C>G (p.Arg849Gly)
NM_004999.4(MYO6):c.2548C>G (p.Leu850Val) rs397517047
NM_004999.4(MYO6):c.2560A>G (p.Asn854Asp) rs2149358961
NM_004999.4(MYO6):c.2561A>G (p.Asn854Ser)
NM_004999.4(MYO6):c.2562T>A (p.Asn854Lys) rs1583365903
NM_004999.4(MYO6):c.2566G>T (p.Val856Leu)
NM_004999.4(MYO6):c.256del (p.Ile86fs)
NM_004999.4(MYO6):c.2571_2574del (p.Ser858fs) rs2149359004
NM_004999.4(MYO6):c.2585A>G (p.Asp862Gly)
NM_004999.4(MYO6):c.258_259delinsCTTTACTAAA (p.Tyr87fs) rs1583208411
NM_004999.4(MYO6):c.2632A>G (p.Ile878Val)
NM_004999.4(MYO6):c.2639_2649delinsGAAATTAAGGTATGTAATTAAGGTATGT (p.Thr880_Ala883delinsArgAsnTer)
NM_004999.4(MYO6):c.264A>G (p.Thr88=)
NM_004999.4(MYO6):c.2659-127_2659-125del rs148937506
NM_004999.4(MYO6):c.2692del (p.Glu898fs)
NM_004999.4(MYO6):c.2696A>G (p.Tyr899Cys)
NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) rs1554218566
NM_004999.4(MYO6):c.2726_2727delinsAA (p.Leu909Gln) rs2149367706
NM_004999.4(MYO6):c.2733T>C (p.Ser911=) rs1554218577
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_004999.4(MYO6):c.275A>G (p.Asn92Ser)
NM_004999.4(MYO6):c.2761G>T (p.Glu921Ter) rs770092845
NM_004999.4(MYO6):c.2762A>G (p.Glu921Gly)
NM_004999.4(MYO6):c.2770G>A (p.Glu924Lys) rs1562290993
NM_004999.4(MYO6):c.2777T>A (p.Leu926Gln) rs2149367858
NM_004999.4(MYO6):c.2779A>G (p.Arg927Gly) rs986223790
NM_004999.4(MYO6):c.2787T>G (p.Ile929Met) rs886061763
NM_004999.4(MYO6):c.2795A>G (p.Glu932Gly)
NM_004999.4(MYO6):c.2800G>T (p.Glu934Ter)
NM_004999.4(MYO6):c.2804A>G (p.Lys935Arg)
NM_004999.4(MYO6):c.2810G>T (p.Arg937Ile)
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) rs876657709
NM_004999.4(MYO6):c.2839C>T (p.Arg947Ter) rs876657653
NM_004999.4(MYO6):c.2857G>A (p.Glu953Lys)
NM_004999.4(MYO6):c.2863C>T (p.Arg955Trp)
NM_004999.4(MYO6):c.2866A>G (p.Met956Val) rs2149368221
NM_004999.4(MYO6):c.2867+1G>A rs2149368227
NM_004999.4(MYO6):c.286G>A (p.Ala96Thr) rs777778726
NM_004999.4(MYO6):c.2872C>G (p.Leu958Val)
NM_004999.4(MYO6):c.2881G>A (p.Glu961Lys)
NM_004999.4(MYO6):c.2891G>T (p.Arg964Ile)
NM_004999.4(MYO6):c.2896C>G (p.Gln966Glu)
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_004999.4(MYO6):c.2906A>G (p.Glu969Gly)
NM_004999.4(MYO6):c.2911A>G (p.Arg971Gly) rs397517049
NM_004999.4(MYO6):c.292A>G (p.Asn98Asp) rs876657910
NM_004999.4(MYO6):c.2937A>C (p.Lys979Asn)
NM_004999.4(MYO6):c.2938C>T (p.Arg980Cys)
NM_004999.4(MYO6):c.2939G>A (p.Arg980His)
NM_004999.4(MYO6):c.2946+16G>T
NM_004999.4(MYO6):c.2972G>A (p.Arg991Gln) rs529167250
NM_004999.4(MYO6):c.2972G>T (p.Arg991Leu) rs529167250
NM_004999.4(MYO6):c.3005T>A (p.Val1002Asp)
NM_004999.4(MYO6):c.3017A>T (p.Glu1006Val) rs1321745586
NM_004999.4(MYO6):c.3040dup (p.Leu1014fs)
NM_004999.4(MYO6):c.3076G>C (p.Asp1026His)
NM_004999.4(MYO6):c.3099G>T (p.Ala1033=)
NM_004999.4(MYO6):c.3103C>A (p.Arg1035=) rs551471138
NM_004999.4(MYO6):c.3103C>T (p.Arg1035Trp)
NM_004999.4(MYO6):c.3107+19G>A rs538399704
NM_004999.4(MYO6):c.3107+19G>T
NM_004999.4(MYO6):c.3107+279_3107+282del rs549109013
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_004999.4(MYO6):c.3137+274dup rs372759632
NM_004999.4(MYO6):c.3138-107T>A rs720862
NM_004999.4(MYO6):c.3138-4G>A
NM_004999.4(MYO6):c.3142C>T (p.Gln1048Ter) rs918013766
NM_004999.4(MYO6):c.3176+14A>C
NM_004999.4(MYO6):c.3176G>A (p.Arg1059Lys)
NM_004999.4(MYO6):c.3177-138A>G rs111606661
NM_004999.4(MYO6):c.3177-15G>A
NM_004999.4(MYO6):c.3177-3C>T rs747051401
NM_004999.4(MYO6):c.3185C>G (p.Ala1062Gly)
NM_004999.4(MYO6):c.3197C>T (p.Thr1066Ile) rs1312339926
NM_004999.4(MYO6):c.3198C>T (p.Thr1066=) rs143864052
NM_004999.4(MYO6):c.3200A>C (p.Lys1067Thr)
NM_004999.4(MYO6):c.3207T>C (p.Ala1069=) rs727505051
NM_004999.4(MYO6):c.3207_3212delinsATCCTACATACTTAAAATTTCTT (p.Ala1070fs) rs727505015
NM_004999.4(MYO6):c.3235A>G (p.Lys1079Glu)
NM_004999.4(MYO6):c.3256_3257dup (p.Asp1087fs) rs2149415255
NM_004999.4(MYO6):c.3270T>C (p.Asn1090=) rs139395133
NM_004999.4(MYO6):c.3278G>A (p.Cys1093Tyr)
NM_004999.4(MYO6):c.3280+232G>A rs72674546
NM_004999.4(MYO6):c.3280+3_3280+6del
NM_004999.4(MYO6):c.3280+87TG[12] rs71002774
NM_004999.4(MYO6):c.3280+87TG[13] rs71002774
NM_004999.4(MYO6):c.3280+87TG[15] rs71002774
NM_004999.4(MYO6):c.3280+87TG[16] rs71002774
NM_004999.4(MYO6):c.3281-18G>A
NM_004999.4(MYO6):c.3281-18G>T rs75371739
NM_004999.4(MYO6):c.3288G>A (p.Glu1096=)
NM_004999.4(MYO6):c.3301T>G (p.Cys1101Gly)
NM_004999.4(MYO6):c.3321G>A (p.Arg1107=)
NM_004999.4(MYO6):c.3326T>C (p.Leu1109Pro) rs1554222430
NM_004999.4(MYO6):c.3331G>A (p.Val1111Met)
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)
NM_004999.4(MYO6):c.3376del (p.Thr1126fs)
NM_004999.4(MYO6):c.3391C>T (p.Pro1131Ser) rs727503327
NM_004999.4(MYO6):c.3412+8G>C
NM_004999.4(MYO6):c.3413-20C>T
NM_004999.4(MYO6):c.3430A>G (p.Asn1144Asp) rs794727568
NM_004999.4(MYO6):c.3439+13G>T rs1362707127
NM_004999.4(MYO6):c.3439+14T>G
NM_004999.4(MYO6):c.344_345del (p.Tyr115fs) rs1554204415
NM_004999.4(MYO6):c.3506G>T (p.Arg1169Leu)
NM_004999.4(MYO6):c.3518T>C (p.Ile1173Thr) rs2149433527
NM_004999.4(MYO6):c.3520C>T (p.Pro1174Ser)
NM_004999.4(MYO6):c.352A>G (p.Lys118Glu)
NM_004999.4(MYO6):c.3531C>T (p.Arg1177=)
NM_004999.4(MYO6):c.3567A>G (p.Lys1189=)
NM_004999.4(MYO6):c.3577T>C (p.Trp1193Arg) rs2149433689
NM_004999.4(MYO6):c.3586C>G (p.His1196Asp) rs2149433696
NM_004999.4(MYO6):c.359T>C (p.Leu120Pro)
NM_004999.4(MYO6):c.3607G>T (p.Ala1203Ser)
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_004999.4(MYO6):c.3623_3640del (p.Leu1208_Pro1213del) rs2149433811
NM_004999.4(MYO6):c.3631G>A (p.Asp1211Asn)
NM_004999.4(MYO6):c.3644T>C (p.Ile1215Thr) rs1554223853
NM_004999.4(MYO6):c.3646C>G (p.Leu1216Val) rs876657908
NM_004999.4(MYO6):c.3659-5T>C
NM_004999.4(MYO6):c.36dup (p.Thr13fs) rs1562201376
NM_004999.4(MYO6):c.3712C>G (p.Arg1238Gly)
NM_004999.4(MYO6):c.3715A>T (p.Lys1239Ter)
NM_004999.4(MYO6):c.3718_3719del (p.Arg1240fs) rs1781031440
NM_004999.4(MYO6):c.3723T>C (p.Gly1241=)
NM_004999.4(MYO6):c.3742C>G (p.Gln1248Glu)
NM_004999.4(MYO6):c.3762A>G (p.Glu1254=)
NM_004999.4(MYO6):c.3764G>A (p.Arg1255His) rs751099407
NM_004999.4(MYO6):c.3765del (p.Cys1256fs) rs1582024232
NM_004999.4(MYO6):c.3818C>T (p.Pro1273Leu) rs142424695
NM_004999.4(MYO6):c.3821C>T (p.Thr1274Ile)
NM_004999.4(MYO6):c.3822C>A (p.Thr1274=)
NM_004999.4(MYO6):c.3833C>T (p.Ala1278Val) rs397517052
NM_004999.4(MYO6):c.3840G>A (p.Leu1280=) rs1257266201
NM_004999.4(MYO6):c.3844_3845del (p.Leu1283fs)
NM_004999.4(MYO6):c.3845G>T (p.Ser1282Ile)
NM_004999.4(MYO6):c.3851dup (p.Leu1284fs)
NM_004999.4(MYO6):c.391+3_391+6del rs2150213297
NM_004999.4(MYO6):c.392-20A>G
NM_004999.4(MYO6):c.412A>G (p.Met138Val)
NM_004999.4(MYO6):c.458C>G (p.Ser153Ter) rs876657710
NM_004999.4(MYO6):c.467G>A (p.Gly156Asp)
NM_004999.4(MYO6):c.470A>G (p.Lys157Arg) rs397517053
NM_004999.4(MYO6):c.473C>G (p.Thr158Arg)
NM_004999.4(MYO6):c.4G>A (p.Glu2Lys) rs2150167197
NM_004999.4(MYO6):c.522A>G (p.Thr174=)
NM_004999.4(MYO6):c.535G>T (p.Asp179Tyr) rs1554205683
NM_004999.4(MYO6):c.536A>G (p.Asp179Gly)
NM_004999.4(MYO6):c.539A>C (p.Asp180Ala)
NM_004999.4(MYO6):c.542G>A (p.Arg181Lys)
NM_004999.4(MYO6):c.548T>A (p.Val183Asp) rs1060499650
NM_004999.4(MYO6):c.553+17A>G
NM_004999.4(MYO6):c.554-1G>A
NM_004999.4(MYO6):c.554-42C>G rs113249518
NM_004999.4(MYO6):c.554-4A>G
NM_004999.4(MYO6):c.558C>A (p.Asn186Lys) rs397517054
NM_004999.4(MYO6):c.560del (p.Pro187fs) rs2150249865
NM_004999.4(MYO6):c.584C>A (p.Ala195Glu) rs772421255
NM_004999.4(MYO6):c.605A>G (p.Asn202Ser) rs886061760
NM_004999.4(MYO6):c.613C>T (p.Arg205Ter)
NM_004999.4(MYO6):c.614G>A (p.Arg205Gln) rs2150250121
NM_004999.4(MYO6):c.61A>G (p.Ile21Val) rs546375259
NM_004999.4(MYO6):c.628G>A (p.Val210Ile)
NM_004999.4(MYO6):c.634A>G (p.Ile212Val)
NM_004999.4(MYO6):c.652-9G>T
NM_004999.4(MYO6):c.667G>A (p.Gly223Arg)
NM_004999.4(MYO6):c.728G>T (p.Arg243Ile)
NM_004999.4(MYO6):c.737A>G (p.His246Arg) rs121912560
NM_004999.4(MYO6):c.78del (p.Asp27fs) rs1771411002
NM_004999.4(MYO6):c.790_795delinsAA (p.His264fs) rs1554207040
NM_004999.4(MYO6):c.798T>G (p.Ser266Arg) rs1398124041
NM_004999.4(MYO6):c.816+157del rs770670898
NM_004999.4(MYO6):c.817-1G>A rs1057523846
NM_004999.4(MYO6):c.835A>T (p.Thr279Ser) rs2150265571
NM_004999.4(MYO6):c.853A>G (p.Lys285Glu)
NM_004999.4(MYO6):c.854_855del (p.Lys285fs)
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357
NM_004999.4(MYO6):c.884G>A (p.Arg295His)
NM_004999.4(MYO6):c.897+177_897+179del
NM_004999.4(MYO6):c.897+19C>G
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) rs1060499799
NM_004999.4(MYO6):c.917T>C (p.Met306Thr) rs2150278897
NM_004999.4(MYO6):c.922G>C (p.Asp308His) rs764615017
NM_004999.4(MYO6):c.926C>G (p.Pro309Arg)
NM_004999.4(MYO6):c.933A>G (p.Leu311=)
NM_004999.4(MYO6):c.951T>C (p.Phe317=) rs397517055
NM_004999.4(MYO6):c.993T>A (p.Asp331Glu) rs757488387

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